Molecular identification in metabolomics using infrared ion spectroscopy

by Jonathan Martens, Giel Berden, Rianne E. van Outersterp, Leo A. J. Kluijtmans, Udo F. Engelke, Clara D. M. van Karnebeek, Ron A. Wevers, Jos Oomens
Published 2017-06-01

New generation lipid emulsions prevent PNALD in chronic parenterally fed preterm pigs

by Hester Vlaardingerbroek, Kenneth Ng, Barbara Stoll, Nancy Benight, Shaji Chacko, LeoA.J. Kluijtmans, Wim Kulik, E. James Squires, Oluyinka Olutoye, Deborah Schady, Milton L. Finegold, Johannes B. van Goudoever, Douglas G. Burrin
Published 2014-03-01

A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

by Jan Václavík, Lucie Mádrová, Štěpán Kouřil, Julie de Sousa, Radana Brumarová, Hana Janečková, Jaroslava Jáčová, David Friedecký, Mária Knapková, Leo A. J. Kluijtmans, Sarah C. Grünert, Frédéric M. Vaz, Nils Janzen, Ronald J. A. Wanders, Ron A. Wevers, Tomáš Adam
Published 2020-07-01

Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline

by Brechtje Hoegen, Alan Zammit, Albert Gerritsen, Udo F. H. Engelke, Steven Castelein, Maartje van de Vorst, Leo A. J. Kluijtmans, Marleen C. D. G. Huigen, Ron A. Wevers, Alain J. van Gool, Christian Gilissen, Karlien L. M. Coene, Purva Kulkarni
Published 2021-08-01

Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

by Marne C. Hagemeijer, Esmee Oussoren, George J. G. Ruijter, Willem Onkenhout, Hidde H. Huidekoper, Merel S. Ebberink, Hans R. Waterham, Sacha Ferdinandusse, Maaike C. deVries, Marleen C. D. G. Huigen, Leo A. J. Kluijtmans, Karlien L. M. Coene, Henk J Blom
Published 2021-09-01

Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization

by Kevin Stroek, Anita Boelen, Marelle J. Bouva, Monique De Sain‐van der Velden, Peter C. J. I. Schielen, Rose Maase, Henk Engel, Bernadette Jakobs, Leo A. J. Kluijtmans, Margot F. Mulder, M. E. Rubio‐Gozalbo, Francjan J. vanSpronsen, Gepke Visser, Maaike C. deVries, Monique Williams, Annemieke C. Heijboer, Evelien A. Kemper, Annet M. Bosch
Published 2020-07-01

Microbial metabolism shifts towards an adverse profile with supplementary iron in the TIM-2 in vitro model of the human colon

by Guus A.M. Kortman, Bas E. Dutilh, Bas E. Dutilh, Bas E. Dutilh, Annet J.H. Maathuis, Udo F Engelke, Jos eBoekhorst, Kevin P Keegan, Fiona Gwendolyn Ginn Nielsen, Fiona Gwendolyn Ginn Nielsen, Jason eBetley, Jacqueline C Weir, Zoya eKingsbury, Leo A.J. Kluijtmans, Dorine W Swinkels, Koen eVenema, Koen eVenema, Harold eTjalsma
Published 2016-01-01

Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism

by Rianne E. van Outersterp, Sam J. Moons, Udo F. H. Engelke, Herman Bentlage, Tessa M. A. Peters, Arno van Rooij, Marleen C. D. G. Huigen, Siebolt de Boer, Ed van der Heeft, Leo A. J. Kluijtmans, Clara D. M. van Karnebeek, Ron A. Wevers, Giel Berden, Jos Oomens, Thomas J. Boltje, Karlien L. M. Coene, Jonathan Martens
Published 2021-03-01

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

by Bibiche den Hollander, Bibiche den Hollander, Bibiche den Hollander, Anne Rasing, Merel A. Post, Merel A. Post, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Michèl A. Willemsen, Dirk J. Lefeber, Dirk J. Lefeber, Dirk J. Lefeber, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek, Clara D. M. van Karnebeek
Published 2021-06-01

Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation

by Karlien L. M. Coene, Corrie Timmer, Susan M. I. Goorden, Amber E. tenHoedt, Leo A. J. Kluijtmans, Mirian C. H. Janssen, Alexander J. M. Rennings, Hubertus C. M. T. Prinsen, Mirjam M. C. Wamelink, George J. G. Ruijter, Irene M. L. W. Körver‐Keularts, M. Rebecca Heiner‐Fokkema, Francjan J. vanSpronsen, Carla E. Hollak, Frédéric M. Vaz, Annet M. Bosch, Marleen C. D. G. Huigen
Published 2021-03-01